Abstract
A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Age of Onset
-
Aged
-
Axons / pathology*
-
Biopsy
-
Charcot-Marie-Tooth Disease / epidemiology
-
Charcot-Marie-Tooth Disease / genetics*
-
Charcot-Marie-Tooth Disease / pathology*
-
Cohort Studies
-
Connexins / genetics
-
DNA Mutational Analysis
-
Demyelinating Diseases / pathology
-
Female
-
Gap Junction beta-1 Protein
-
Humans
-
Intracellular Signaling Peptides and Proteins / genetics*
-
Male
-
Median Nerve / physiopathology
-
Middle Aged
-
Myelin P0 Protein / genetics*
-
Myelin Proteins / genetics
-
Neural Conduction / physiology
-
Pedigree
-
Phenotype
-
Phosphoproteins / genetics*
-
Point Mutation
-
Polymorphism, Single-Stranded Conformational
-
Sural Nerve / pathology
-
Sural Nerve / physiopathology
-
Ulnar Nerve / physiopathology
Substances
-
Connexins
-
Intracellular Signaling Peptides and Proteins
-
MPZL1 protein, human
-
Myelin P0 Protein
-
Myelin Proteins
-
PMP22 protein, human
-
Phosphoproteins